KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal dorsoventral patterning of the neural tube. Here, we report homozygous mutations of KIAA0586 in four families affected by lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly. We show defective ciliogenesis, as well as abnormal response to SHH-signaling activation in cells derived from affected individuals, consistent with a role of KIAA0586 in primary cilia biogenesis. Whereas centriolar maturation seemed unaffected in mutant cells, we observed an abnormal extended pattern of CEP290, a centriolar satellite protein previously associated with ciliopathies. Our data show the crucial role of KIAA0586 in human primary ciliogenesis and subsequent abnormal hedgehog signaling through abnormal GLI3 processing. Our results thus establish that KIAA0586 mutations cause lethal ciliopathies.

BackgroundStudies on the relative impact of body mass index in women in childbearing age and gestational weight gain on neonatal outcomes are scarce in the Middle East.ObjectivesThe primary objective of this research was to assess the impact of maternal body mass index (BMI) and gestational weight gain (GWG) on neonatal outcomes. The effect of maternal age and folic acid supplementation before and during pregnancy was also examined.Subjects and methodsThis is a retrospective cross sectional observational study of 1000 full term deliveries of women enrolled thru the National Collaborative Perinatal Neonatal Network, in Lebanon. Maternal characteristics such as age, BMI and GWG and neonatal outcomes such as weight, height, head circumference and Apgar score were the primary studied variables in this study. Total maternal weight gain were compared to the guidelines depicted by the Institute of Medicine (IOM).ResultsThe negative outcomes of newborns such as lean body weight and macrosomia were significantly present in women who gained respectively below or above the IOM’s cut-off points. Pregestational body mass index influenced significantly the infants’ birth weight, in both the underweight and obese categories. Birth height, head circumference and Apgar score were not influenced by pregestational body mass index or gestational weight gain. No significant associations were found between maternal age and pregestational body mass index and gestational weight gain.ConclusionStudies evaluating the impact of weight before and during pregnancy on neonatal outcomes and anthropometrics measurements are lacking in the Middle East. Our results highlight the importance of nutritional counseling in order to shed the extra weights before conceiving and monitor weight gain to avoid the negative impact on feto-maternal health.

Three-dimensional ultrasonographic technologies may improve the pre-natal diagnosis of main stem BA.

BackgroundInappropriate feminine hygiene practices are related to vulvovaginitis. We investigated the prevalence of personal hygiene habits among Lebanese women as well as their awareness of adequate practices.MethodsConsists of a cross-sectional observational study. Female patients and nurses at Hotel-Dieu de France University Hospital in Beirut- Lebanon filled a questionnaire about their intimate hygiene habits and knowledge of proper practices.ResultsThe study included 249 women. 21.3 % of the 136 nurses and 38.9 % of the 113 patients reported a history of vulvovaginitis. The majority of women took an intimate bath at least twice daily. 14 % of nurses and 17 % of patients douched.20. Seven percent of the nurses and 43.4 % of the patients used wet wipes. 1.5 % of nurses and 4.4 % of patients used feminine deodorant sprays. There was a significant lack of awareness mainly among patients about suitable hygiene practices as well for their adverse effects.ConclusionEducation provided by nurses, and other healthcare providers is essential to promote reproductive health among Lebanese women.